Y7C (p.Tyr7Cys) variant of L1CAM (Neural cell adhesion molecule L1)
Y7C (p.Tyr7Cys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- rs2148502578
- ClinGen CA415143186
- ClinVar RCV003480417
- Ensembl rs2148502578
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.33
- CADD 23.30
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available